Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity in a Large Cohort of Spanish Retinal Dystrophies Families

Autor: Sánchez-Alcudia R, Cortón M, Ávila-Fernández A, Zurita O, Tatu SD, Pérez-Carro R, Fernandez-San Jose P, Lopez-Martinez MÁ, del Castillo FJ, Millan JM, Blanco-Kelly F, García-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C

Publikováno v: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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PURPOSE. The aim of this study was to deepen our knowledge on the basis of intrafamilial genetic heterogeneity of inherited retinal dystrophies (RD) to further discern the contribution of individual alleles to the pathology. METHODS. Families with in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2af72b4740ec9072489e0539b18ca01e
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2304

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Autor: Corton M; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Avila-Fernandez A; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Vallespín E; Instituto de Genética Médica y Molecular, IdiPaz, Hospital Universitario La Paz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., López-Molina MI; Department of Ophthalmology, Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Almoguera B; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Martín-Garrido E; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Tatu SD; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Khan MI; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Blanco-Kelly F; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Riveiro-Alvarez R; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Brión M; Genetics of Cardiovascular and Ophthalmologic Diseases, Instituto de Investigación Sanitaria de Santiago de Compostela, RIC, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Carracedo A; Genomic Medicine Group-USC, Fundación Publica Galega de Medicina Xenómica, Santiago de Compostela, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Ayuso C; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address: cayuso@fjd.es.

Publikováno v: Ophthalmology [Ophthalmology] 2014 Jan; Vol. 121 (1), pp. 399-407. Date of Electronic Publication: 2013 Oct 18.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

Autor: Corton M; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain., Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Feb 05; Vol. 8, pp. 20. Date of Electronic Publication: 2013 Feb 05.